Incidental Mutation 'IGL01776:Dcn'
ID153857
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dcn
Ensembl Gene ENSMUSG00000019929
Gene Namedecorin
SynonymsDC, SLRR1B
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01776
Quality Score
Status
Chromosome10
Chromosomal Location97479609-97518143 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 97495076 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 91 (I91V)
Ref Sequence ENSEMBL: ENSMUSP00000131431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105287] [ENSMUST00000163448]
Predicted Effect possibly damaging
Transcript: ENSMUST00000105287
AA Change: I91V

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100924
Gene: ENSMUSG00000019929
AA Change: I91V

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
LRRNT 48 80 3.86e-11 SMART
LRR 79 98 2.54e1 SMART
LRR 99 122 1.14e0 SMART
LRR_TYP 123 146 2.91e-2 SMART
LRR 147 167 1.67e2 SMART
LRR 168 193 1.29e2 SMART
LRR 194 217 5.27e1 SMART
LRR 239 262 6.05e0 SMART
LRR 263 286 1.01e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000163448
AA Change: I91V

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131431
Gene: ENSMUSG00000019929
AA Change: I91V

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
LRRNT 48 80 3.86e-11 SMART
LRR 79 98 2.54e1 SMART
LRR 99 122 1.14e0 SMART
LRR_TYP 123 146 2.91e-2 SMART
LRR 147 167 1.67e2 SMART
LRR 168 193 1.29e2 SMART
LRR 194 217 5.27e1 SMART
LRR 239 262 6.05e0 SMART
LRR 263 286 1.01e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219539
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded preproprotein is proteolytically processed to generate a mature protein product, which is secreted into the extracellular space to regulate collagen fibril assembly. Homozygous knockout mice for this gene exhibit enhanced tumorigenesis in a liver cancer model, and defects in collagen fibrils, leading to weakened skin and tendons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mutant mice have fragile skin and exhibit abnormal collagen morphology in skin and tendons, supporting this gene's role in regulating collagen fiber formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd17 G A 5: 90,283,364 Q854* probably null Het
Armc8 A G 9: 99,526,883 probably benign Het
Chrna7 A G 7: 63,099,519 V405A probably benign Het
Col8a2 C A 4: 126,309,805 probably benign Het
Dock7 T A 4: 98,940,941 R2069S possibly damaging Het
Gm7247 A G 14: 51,521,899 S112G possibly damaging Het
Hmcn1 T G 1: 150,672,038 T2721P possibly damaging Het
Hsd3b3 T C 3: 98,743,847 T96A probably benign Het
Ifi207 G A 1: 173,725,044 L936F probably damaging Het
Kcp G A 6: 29,497,908 P477S probably damaging Het
Mei1 T C 15: 82,095,932 probably null Het
Mgmt T A 7: 137,121,564 L121* probably null Het
Mrps35 G A 6: 147,070,716 V286I probably benign Het
Naxd T C 8: 11,505,525 probably null Het
Pam A G 1: 97,885,600 probably null Het
Plcxd1 G A 5: 110,101,380 probably benign Het
Rasgrp1 A G 2: 117,286,840 probably null Het
Spag9 C T 11: 94,116,727 probably benign Het
Spire2 T C 8: 123,359,392 S288P probably damaging Het
Stk11ip T C 1: 75,527,821 V322A probably benign Het
Syt17 A C 7: 118,409,953 L343R probably damaging Het
Tap1 G A 17: 34,193,128 V436I possibly damaging Het
Virma C T 4: 11,527,792 R1228C probably damaging Het
Other mutations in Dcn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01519:Dcn APN 10 97483523 missense probably damaging 1.00
IGL02608:Dcn APN 10 97483457 missense probably damaging 0.99
IGL02990:Dcn APN 10 97509973 missense probably benign 0.00
IGL03181:Dcn APN 10 97483452 missense probably damaging 0.98
IGL03268:Dcn APN 10 97483378 missense probably benign
PIT4791001:Dcn UTSW 10 97507742 missense probably benign
R0091:Dcn UTSW 10 97506689 missense probably benign 0.00
R0267:Dcn UTSW 10 97506483 splice site probably benign
R1759:Dcn UTSW 10 97513655 missense probably benign 0.01
R1845:Dcn UTSW 10 97506674 missense probably benign 0.00
R5322:Dcn UTSW 10 97517602 missense probably benign 0.03
R6613:Dcn UTSW 10 97495040 missense probably benign 0.03
R6650:Dcn UTSW 10 97507743 missense probably benign 0.00
R7392:Dcn UTSW 10 97509998 missense probably damaging 0.98
R7596:Dcn UTSW 10 97510009 missense probably damaging 1.00
R7626:Dcn UTSW 10 97483478 missense possibly damaging 0.75
R7957:Dcn UTSW 10 97510194 intron probably null
R8049:Dcn UTSW 10 97513617 missense probably damaging 1.00
Posted On2014-02-04